May 29, 2015

Klippel-Feil syndrome

Introduction:
Klipple-Feil Syndrome is a congenital malformation.It is first described by Maurice Klippel and Andre Feil in 1912.68% found in females. It may be because of problem in the early neural tube development.          

Features

1.short webbed neck
2,fused cervical vertebrae
3. secondary torticollis
4. facial asymmetry
5.low hairline

Frequency:

1 in 42000 live births

Types:

Type I - Single-level fusion
Type II - Multiple, noncontinuous fused segments
Type III - Multiple, contiguous fused segments

Associated anomalies:

Cleft palate
deafness
ventricular septal defect
rib defects
fetal alcohol syndrome
syringomyelia
scoliosis
cervical meningomyelocele
Sprengel anomaly

Presentation:

short neck
Decreased neck movements (ROM)
Facial asymmetry
toticollis

Investigations: 

Lateral flexion-extension radiographs of the cervical spine
CT scan of cervical spine/whole spine
Ultrasonography for renal anomalies

Management:

Hyper-mobility of upper cervical spine are at risk of developing neurologic development, While hyper-mobility of lower cervical spine are exposed to early degenerative disease and its consequences.
Syptomatic spinal fusion my require decompression








1 comments:

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